Works matching DE "HEMOGLOBINOPATHY genetics"

Results: 47

Hemoglobinopathies in the North of Morocco: Consanguinity Pilot Study.

Published in:

BioMed Research International, 2019, p. 1, doi. 10.1155/2019/6857417

By:

Laghmich, Achraf;
Alaoui Ismaili, Fatima Zahra;
Zian, Zeineb;
Barakat, Amina;
Ghailani Nourouti, Naima;
Bennani Mechita, Mohcine

Publication type:

Article

Common Hemoglobinopathies for Couples Premarital Individual and its Influence on Hemostasis and Immune State.

Published in:

Medico-Legal Update, 2021, v. 21, n. 2, p. 529, doi. 10.37506/mlu.v21i2.2736

By:

Ibrahim AL-Mahdawi, Fatimah Kadhim;
Oudah, Noor Nayyef;
Mohammed, Mazin Razooqi

Publication type:

Article

Red blood cell mechanical sensitivity improves in patients with sickle cell disease undergoing chronic transfusion after prolonged, subhemolytic shear exposure.

Published in:

2018

By:

Simmonds, Michael J.;
Suriany, Silvie;
Ponce, Derek;
Detterich, Jon A.

Publication type:

journal article

Visual Inspection of Chromatograms Assists Interpretation of HbA1c: A Case Report.

Published in:

2018

By:

Qianrui Li;
Yuling Xiao;
Dinesh Shah, Anoop;
Sheyu Li;
Li, Qianrui;
Xiao, Yuling;
Shah, Anoop Dinesh;
Li, Sheyu

Publication type:

journal article

Efficient correction of hemoglobinopathy-causing mutations by homologous recombination in integration-free patient iPSCs.

Published in:

2011

By:

Li, Mo;
Suzuki, Keiichiro;
Qu, Jing;
Saini, Preeti;
Dubova, Ilir;
Yi, Fei;
Lee, Jungmin;
Sancho-Martinez, Ignacio;
Liu, Guang-Hui;
Belmonte, Juan Carlos Izpisua

Publication type:

Letter

Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study.

Published in:

Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 635, doi. 10.1007/s10897-017-0159-7

By:

Holtkamp, Kim C. A.;
Hader, Hind;
Cornel, Martina C.;
Henneman, Lidewij;
Jans, Suze M. J. P.;
Lakeman, Phillis;
Hoenderdos, Maria;
Playfair, Henna A. M.;
Peters, Marjolein

Publication type:

Article

OLMSTED SYNDROME: REPORT OF TWO CASES.

Published in:

Indian Journal of Dermatology, 2011, v. 56, n. 5, p. 591, doi. 10.4103/0019-5154.87166

By:

Tharini, G. K.;
Hema, N.;
Jayakumar, S.;
Parveen, B.

Publication type:

Article

Selenium Status and Hemolysis in Sickle Cell Disease Patients.

Published in:

Nutrients, 2019, v. 11, n. 9, p. 2211, doi. 10.3390/nu11092211

By:

Delesderrier, Emília;
Cople-Rodrigues, Cláudia S.;
Omena, Juliana;
Kneip Fleury, Marcos;
Barbosa Brito, Flávia;
Costa Bacelo, Adriana;
Correa Koury, Josely;
Citelli, Marta

Publication type:

Article

Abdominal pain in a patient with sickle cell disease with multiple complications.

Published in:

Türk Pediatri Arşivi, 2019, v. 54, n. 4, p. 267, doi. 10.14744/TurkPediatriArs.2018.05668

By:

Mehrabani, Sanaz;
Tammadoni, Ahmad;
Osia, Soheil

Publication type:

Article

A Rare α-chain Variant Hb Fontainebleau in an Adult Male - Lessons Learnt.

Published in:

Online Journal of Health & Allied Sciences, 2023, v. 22, n. 4, p. 1

By:

Sehgal, Shivali;
Sharma, Swati;
Shukla, Shailaja;
Sharma, Sunita

Publication type:

Article

Hemoglobinopathies, G6PD Deficiency, and Hereditary Elliptocytosis in Bahrain.

Published in:

Human Biology, 2004, v. 76, n. 5, p. 779, doi. 10.1353/hub.2005.0004

By:

Dash, Sumitra

Publication type:

Article

Protection Afforded by Sickle-Cell Trait (Hb AS): What Happens when Malarial Selection Pressures....

Published in:

Human Biology, 2001, v. 73, n. 4, p. 583, doi. 10.1353/hub.2001.0053

By:

Hoff, Charles;
Thorneycroft, Ian;
Wilson, Felicia;
Williams-Murphy, Monica

Publication type:

Article

Exercise Capacity and Biomarkers Among Children and Adolescents With Sickle Cell Disease.

Published in:

Pediatric Exercise Science, 2023, v. 35, n. 2, p. 84, doi. 10.1123/pes.2021-0188

By:

Silva, Lea Barbetta Pereira da;
Mercês de Jesus, Gilmar;
Bessa Junior, José de;
Silva, Valter Abrantes Pereira da;
Mattos, Ivanilde Guedes de;
Jenerette, Coretta Melissa;
Carvalho, Evanilda Souza de Santana

Publication type:

Article

The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 9, p. 499, doi. 10.1007/s100380170030

By:

Daud, D.;
Harahap, A.;
Setianingsih, I.;
Nainggolan, I.;
Tranggana, S.;
Pakasi, R.;
Marzuki, S.

Publication type:

Article

A novel α0‐thalassemia deletion in a Brazilian child with Hb H disease: −−Mococa.

Published in:

2024

By:

Soler, A. M.;
Pedroso, G. A.;
Geraldo, A. P. M.;
Albuquerque, D. M.;
Costa, F. F.;
Santos, M. N. N.;
Knijnenburg, J.;
Harteveld, C. L.;
Sonati, M. F.;
da Luz, J. A.

Publication type:

Letter to the Editor

The role of molecular diagnostic testing for hemoglobinopathies and thalassemias.

Published in:

International Journal of Laboratory Hematology, 2023, v. 45, p. 71, doi. 10.1111/ijlh.14089

By:

Sabath, Daniel E.

Publication type:

Article

The hemoglobinopathies, molecular disease mechanisms and diagnostics.

Published in:

International Journal of Laboratory Hematology, 2022, v. 44, p. 28, doi. 10.1111/ijlh.13885

By:

Harteveld, Cornelis L.;
Achour, Ahlem;
Arkesteijn, Sandra J. G.;
ter Huurne, Jeanet;
Verschuren, Maaike;
Bhagwandien‐Bisoen, Sharda;
Schaap, Rianne;
Vijfhuizen, Linda;
el Idrissi, Hakima;
Koopmann, Tamara T.

Publication type:

Article

Hemoglobin Andrew‐Minneapolis‐Bijnor HBB:c.[413T>C;435G>C] in a complex genotype with β‐thalassemia trait: A diagnostic and management conundrum.

Published in:

2022

By:

Khaire, Niranjan Shiwaji;
Jamwal, Manu;
Sharma, Prashant;
Hira, Jasbir Kaur;
Chhabra, Sanjeev;
Malhotra, Pankaj;
Das, Reena

Publication type:

Letter to the Editor

β‐Hemoglobinopathies in the Lao People's Democratic Republic: Molecular diagnostics and implication for a prevention and control program.

Published in:

International Journal of Laboratory Hematology, 2021, v. 43, n. 3, p. 500, doi. 10.1111/ijlh.13406

By:

Singha, Kritsada;
Chaibunruang, Attawut;
Souvanlasy, Bounpalisone;
Srivorakun, Hataichanok;
Yamsri, Supawadee;
Fucharoen, Goonnapa;
Fucharoen, Supan

Publication type:

Article

Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.

Published in:

International Journal of Laboratory Hematology, 2020, v. 42, n. 4, p. 482, doi. 10.1111/ijlh.13232

By:

Mehta, Pallavi;
Sawant, Pratibha;
Gorivale, Manju;
Nadkarni, Anita;
Colah, Roshan;
Mukherjee, Malay B.

Publication type:

Article

Differentiation of homozygous hemoglobin E and hemoglobin E‐β0‐thalassemia in children.

Published in:

2019

By:

Arong, Areeda;
Wangwok, Greetapop;
Singha, Kritsada;
Sanchaisuriya, Kanokwan;
Fucharoen, Goonnapa;
Fucharoen, Supan

Publication type:

Letter to the Editor

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Published in:

International Journal of Laboratory Hematology, 2019, v. 41, n. 2, p. 218, doi. 10.1111/ijlh.12948

By:

Nadkarni, Anita H.;
Gorakshakar, Ajit C.;
Sawant, Pratibha M.;
Italia, Khushnooma Y.;
Upadhye, Dipti S.;
Gorivale, Manju S.;
Mehta, Pallavi R.;
Hariharan, Priya;
Ghosh, Kanjaksha;
Colah, Roshan B.

Publication type:

Article

Co-inheritance of α0-thalassemia elevates Hb A2 level in homozygous Hb E: Diagnostic implications.

Published in:

International Journal of Laboratory Hematology, 2017, v. 39, n. 5, p. 508, doi. 10.1111/ijlh.12677

By:

Singha, K.;
Srivorakun, H.;
Fucharoen, G.;
Fucharoen, S.

Publication type:

Article

Co-heredity of silent CAP + 1570 T>C ( HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia.

Published in:

International Journal of Laboratory Hematology, 2016, v. 38, n. 1, p. 17, doi. 10.1111/ijlh.12433

By:

Vinciguerra, M.;
Passarello, C.;
Cassarà, F.;
Leto, F.;
Cannata, M.;
Calvaruso, G.;
Di Maggio, R.;
Renda, D.;
Maggio, A.;
Giambona, A.

Publication type:

Article

Rare hemoglobin variants in Tunisian population.

Published in:

International Journal of Laboratory Hematology, 2015, v. 37, n. 2, p. 148, doi. 10.1111/ijlh.12259

By:

Zorai, A.;
Moumni, I.;
Mosbahi, I.;
Douzi, K.;
Chaouachi, D.;
Guemira, F.;
Abbes, S.

Publication type:

Article

State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies.

Published in:

International Journal of Laboratory Hematology, 2014, v. 36, n. 1, p. 1, doi. 10.1111/ijlh.12108

By:

Harteveld, C. L.

Publication type:

Article

Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies.

Published in:

International Journal of Laboratory Hematology, 2013, v. 35, n. 6, p. 571, doi. 10.1111/ijlh.12086

By:

Traeger‐Synodinos, J.

Publication type:

Article

Hemoglobin variants and high-performance liquid chromatography.

Published in:

International Journal of Laboratory Hematology, 2013, v. 35, n. 5, p. e13, doi. 10.1111/ijlh.12052

By:

Nair, S;
Nadkarni, A. H.;
Ghosh, K.;
Colah, R.

Publication type:

Article

Complex neonatal hemoglobin pattern due to co-inheritance of Hb Q-Thailand and Hb E.

Published in:

International Journal of Laboratory Hematology, 2013, v. 35, n. 5, p. e29, doi. 10.1111/ijlh.12062

By:

Gammeren, A. J.;
Jonkers, M.;
Harteveld, C. L.

Publication type:

Article

Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls.

Published in:

International Journal of Laboratory Hematology, 2013, v. 35, n. 5, p. 465, doi. 10.1111/ijlh.12037

By:

Giordano, P. C.

Publication type:

Article

Prenatal and newborn screening for hemoglobinopathies.

Published in:

International Journal of Laboratory Hematology, 2013, v. 35, n. 3, p. 297, doi. 10.1111/ijlh.12076

By:

Hoppe, C. C.

Publication type:

Article

Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β -Thalassemia Mutations in the Tunisian Population.

Published in:

Hemoglobin, 2015, v. 39, n. 4, p. 251, doi. 10.3109/03630269.2015.1041605

By:

Ben Charfeddine, Ilhem;
Ben Lazreg, Taheni;
M'sakni, Ahlem;
Amara, Abdelbasset;
Mlika, Adnène;
Chaïeb, Anouar;
Hlel, Khalid;
Zouari, Noura;
Zbidi, Faïza;
Bouguila, Jihène;
Soyah, Najla;
Ayedi, Abdelkarim;
Ben Hamouda, Hechmi;
Abroug, Saoussen;
Boughamoura, Lamia;
Saad, Ali;
Gribaa, Moez

Publication type:

Article

Hb Feilding [ β12(A9)Thr → Pro; HBB: c.37A>C]: A Novel Unstable β-Globin Chain Variant.

Published in:

Hemoglobin, 2015, v. 39, n. 1, p. 49, doi. 10.3109/03630269.2014.999082

By:

Ghallyan, Nikhil;
Donald, Tarn;
Broad, David;
Johnson, Steve;
Browett, Peter;
Van de Water, Neil

Publication type:

Article

Detection of Hb Setif in North Iran and the Question of Its Origin: Iranian or Multiethnic??

Published in:

Hemoglobin, 2011, v. 35, n. 2, p. 152, doi. 10.3109/03630269.2011.557461

By:

Mahdavi, Mohammad Reza;
Karimi, Mehran;
Yavarian, Majid;
Roshan, Payam;
Kosaryan, Mehrnoush;
Siami, Rita

Publication type:

Article

Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques.

Published in:

Hemoglobin, 2008, v. 32, n. 4, p. 411, doi. 10.1080/03630260802173791

By:

Joly, Philippe;
Pégourié, Brigitte;
Courby, Stéphane;
Barro, Claire;
Besson, Gérard;
Cohen, Laura;
Garcia, Caroline;
Francina, Alain

Publication type:

Article

First Observation of Hemoglobin Kansas [βO2(G4)Asn→Thr, AAC>ACC] in the Turkish Population.

Published in:

Turkish Journal of Hematology, 2015, v. 32, n. 4, p. 374, doi. 10.4274/tjh.2015.0177

By:

Keser, İbrahim;
Öztaş, Alev;
Bilgen, Türker;
Canatan, Duran

Publication type:

Article

First Observation of Hemoglobin Jabalpur [Beta 3 (NA3) Leu>Pro] in the Turkish Population.

Published in:

2014

By:

Çolak, Ayfer;
Toprak, Burak;
Yararbaş, Kanay;
Akyol, Fatma;
Ceylan, Cengiz

Publication type:

Case Study

HbQ-India associated with microcytosis: An uncommon hemoglobin variant associated with a common hematologic condition.

Published in:

2010

By:

Yadav, Amit Kumar;
Rusia, Usha

Publication type:

Case Study

Pattern of ß-Thalassemia and Other Haemoglobinopathies: A Cross-Sectional Study in Bangladesh.

Published in:

ISRN Hematology, 2012, p. 1, doi. 10.5402/2012/659191

By:

Uddin, M. Mesbah;
Akteruzzaman, Sharif;
Rahman, Taibur;
Mahbub Hasan, A. K. M.;
Shekhar, Hossain Uddin

Publication type:

Article

Preliminary Identification of Hemoglobin Q-Iran in an Iranian Family from Central Province of Iran by Globin Chain Analysis on HPLC.

Published in:

Archives of Iranian Medicine (AIM), 2013, v. 16, n. 12, p. 739

By:

Khatami, Shohreh;
Najmabadi, Hossein;
Rouhi, Soghra;
Mirzazadeh, Roghieh;
Bayat, Parastoo;
Sadeghi, Sediglieh

Publication type:

Article

Unlocking the link between haptoglobin polymorphism and noninfectious human diseases: insights and implications.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 2024, v. 61, n. 4, p. 275, doi. 10.1080/10408363.2023.2285929

By:

Delanghe, Joris R.;
Delrue, Charlotte;
Speeckaert, Reinhart;
Speeckaert, Marijn M.

Publication type:

Article

Universal newborn screening for haemoglobinopathies in Guadeloupe (French West Indies): A 27-year experience.

Published in:

Journal of Medical Screening, 2013, v. 20, n. 4, p. 177, doi. 10.1177/0969141313507919

By:

Saint-Martin, Christian;
Romana, Marc;
Bibrac, Alix;
Brudey, Karine;
Tarer, Vanessa;
Divialle-Doumdo, Lydia;
Petras, Marie;
Keclard-Christophe, Lisiane;
Lamothe, Sandrine;
Broquere, Cédric;
Etienne-Julan, Maryse

Publication type:

Article

Screening for haemoglobinopathies on cord blood: laboratory and clinical experience.

Published in:

Journal of Medical Screening, 2012, v. 19, n. 3, p. 116, doi. 10.1258/jms.2012.011107

By:

Wolff, Fleur;
Cotton, Frédéric;
Gulbis, Béatrice

Publication type:

Article

Internet-based approach to population screening for common hemoglobinopathies in United Arab Emirates.

Published in:

2011

By:

Matar, Maryam;
Naveed, Mohammed;
Salim, Sajala;
Hareb, Nevin;
Alba, Emayla;
Hino, Minako;
Nitta, Takenori;
Adhiyanto, Chris;
Yamashiro, Yasuhiro;
Hattori, Yukio

Publication type:

Journal Article

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Published in:

Nature Genetics, 2011, v. 43, n. 4, p. 295, doi. 10.1038/ng.785

By:

Giardine, Belinda;
Borg, Joseph;
Higgs, Douglas R.;
Peterson, Kenneth R.;
Philipsen, Sjaak;
Maglott, Donna;
Singleton, Belinda K.;
Anstee, David J.;
Basak, A. Nazli;
Clark, Barnaby;
Costa, Flavia C.;
Faustino, Paula;
Fedosyuk, Halyna;
Felice, Alex E.;
Francina, Alain;
Galanello, Renzo;
Gallivan, Monica V. E.;
Georgitsi, Marianthi;
Gibbons, Richard J.;
Giordano, Piero C.

Publication type:

Article

Hämoglobinvarianten - Pathomechanismus, Symptome und Diagnostik Hemoglobin variants - pathomechanism, symptoms and diagnosis.

Published in:

Journal of Laboratory Medicine / Laboratoriums Medizin, 2015, v. 39, n. 5, p. 311, doi. 10.1515/labmed-2015-0043

By:

Zur, Berndt

Publication type:

Article

Synergistic Effect of Simvastatin and Romidepsin on Gamma-globin Gene Induction.

Published in:

Cell Journal (Yakhteh), 2019, v. 20, n. 4, p. 576, doi. 10.22074/cellj.2019.5589

By:

Habibi, Hussain;
Atashi, Amir;
Abroun, Saeid;
Noruzinia, Mehrdad

Publication type:

Article